U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+439 more
Copy number gain
See cases
GPathogenic
BRAT1, ACTB
+381 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+357 more
Copy number loss
See cases
GPathogenic
ACTB, ADAP1
+418 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
AP5Z1, FOXK1
+33 more
Copy number gain
See cases
GUncertain significance
ACTB, FBXL18
+75 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+119 more
Copy number gain
See cases
GUncertain significance
LOC129389731, LOC129997867
+5 more
Copy number gain
See cases
GLikely benign
LOC129389731, LOC129997867
+4 more
Copy number loss
See cases
GLikely benign
ACTB, FBXL18
+71 more
Copy number loss
See cases
GPathogenic
LOC129997877, LOC129997878
+137 more
Copy number loss
See cases
GPathogenic
RBAK, RBAK-RBAKDN
(W82C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(K97R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(T109N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(E115K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(S146C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(G184W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(I200V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(M211L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(G239E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(I243L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(S254L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(M258V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(E290A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RBAK, RBAK-RBAKDN
(R308W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(R308Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(C375R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(S450R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(Y457H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(C459S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(R476Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(E489Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(S494F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(H501R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(G517A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(S524L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(K534N)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
RBAK, RBAK-RBAKDN
(N549S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RBAK, RBAK-RBAKDN
(S552L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(S560N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(E563G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(E571K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(H578R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(S605P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(H614Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(H614R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(E676D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RBAK, RBAK-RBAKDN
(E683G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBAK, RBAK-RBAKDN
(N705D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACTB, AP5Z1
+11 more
Deletion
Baraitser-Winter syndrome 1
GUncertain significance
MMD2, RADIL
+4 more
Copy number gain
not provided
GUncertain significance
RNF216, SDK1
+48 more
Copy number gain
not provided
GPathogenic
PSMG3, RAC1
+73 more
Copy number gain
not provided
GPathogenic
ACTB, AP5Z1
+15 more
Copy number loss
not provided
GPathogenic
MMD2, PAPOLB
+3 more
Copy number gain
not provided
GUncertain significance
MAD1L1, MAFK
+73 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
ACTB, ADAP1
+98 more
Copy number gain
See cases
GPathogenic
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
MMD2, RBAK
+1 more
Copy number gain
not provided
GUncertain significance
ACTB, FBXL18
+5 more
Copy number loss
Autistic behavior
+4 more
GPathogenic
AP5Z1, FOXK1
+5 more
Copy number gain
not provided
GUncertain significance
RBAK, RBAK-RBAKDN
+5 more
Copy number gain
not provided
GUncertain significance
RBAK, RBAK-RBAKDN
+1 more
Duplication
Megacolon
GUncertain significance
RBAK-RBAKDN, RBAK
Copy number loss
not provided
GLikely benign
ACTB, AIMP2
+54 more
Copy number gain
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ACTB, ADAP1
+98 more
Copy number gain
not provided
GPathogenic
ACTB, AIMP2
+33 more
Copy number gain
not provided
GPathogenic
AP5Z1, FOXK1
+8 more
Copy number gain
See cases
GLikely pathogenic
AP5Z1, C1GALT1
+42 more
Copy number gain
See cases
GPathogenic
ACTB, AIMP2
+30 more
Copy number gain
See cases
GLikely pathogenic
ACTB, ADAP1
+76 more
Copy number gain
See cases
GPathogenic
AMZ1, AP5Z1
+26 more
Copy number loss
See cases
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+158 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+121 more
Copy number gain
See cases
GPathogenic
DAGLB, DNAAF5
+76 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+82 more
Copy number gain
See cases
GPathogenic
TNRC18, TTYH3
+80 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination